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Monday, August 27, 2007

Dear Son appears in the July 31st edition of Neurology

FYI-For those medical professsionals, you can read more about Dear Son and his particular mutation of the ARX gene in the July 31, 2007 edition of Neurology-Volume 69, Issue 5 which can be accessed at http://www.neurology.org/ The title of the article is, "Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus." Dear Son is referenced in the article as Patient #4 and appears in Video #4. The video of Dear Son was taken a few years back shortly after the gene was discovered. An MRI of his brain is included in the article.

The geneticist also informed me that another co-worker will have a mouse model of Dear Son's mutation ready in the next six months or so and one of his colleagues in another city will have a mouse model and test different meds in them, although this will probably take several years.

As an FYI, Dear Son was tested for the ARX gene shortly after it was discovered. He was tested after the geneticist who discovered it was doing rounds (Dear Son was hospitalized at the time)and thought he fit the profile for the gene. Dear Son tested positive for the ARX mutation and shortly after that, I agreed to the video which you will see in Video #4. At around the same time, they asked for a skin sample (DNA) so they could create a mouse of the gene and I agreed. Although the gene is x-linked, I tested negative for the mutation. You can read more about Dear Son here.

I am thrilled that we are learning more about this gene however it is really hard to watch the videos of these kids.

5 comments:

you were right, I only was able to watch the one of Dear Son (GOSH he is cute) and the number 1 video...too hard. :(The mouse model of Down syndrome has been the key to some really exciting things for us. I pray it will be the same for you.

It seems Dear Son was much more in control of his movements and more interactive than the other children they showed- and they looked to be a similar age if not younger than he was in the video. Is that just chance or degree of severity of disease, or did Dear Son have more interventions to keep him mobile longer?

Christina, I don't recall any information from the geneticist in terms of any difference in severity so I'll chalk it up to interventions.

I did notice from the videos that one of the kids didn't have a very good wheelchair that supported him in any way and I have to wonder if the equipment, therapy and services made a difference since some of these kids are from different countries. We had a hard time finding a walker that supported him since he had no use of his hands/arms and finally found one that supported his torso. I am certain there may be more walkers like this available now than there were ten years ago when Dear Son was little and I have no idea of what type of services might have been available to these children in their countries.

We've also been blessed to have access to great medical care here in our city in the U.S. and I have to wonder if the larger issue is really the fact that Dear Son had had a excellent pediatric neurologist who did a great job at controlling his intractable seizures. Dear Son has also had a VNS implanted as well and that made a big difference.

Finally, of the six children highlighted in the article/videos, there were two sets of brothers. I doubt if I had two boys like Dear Son that I could have done as much with him since I would have been exhausted.